Interestingly, consistent with an important role in cilia metabolism, CEP290 mutations have been associated with additional human phenotypes, including oculo-renal Senior Loken syndrome (SLSN6, MIM610189), oculo-cerebro-renal Joubert syndrome (JBTS5, MIM610188) and embryo-lethal Meckel syndrome type 4 (MKS; MIM611134) [19]. This evidence concerns the gene CEP290 and Meckel syndrome, type 1.